High-grade supratentorial tumors harboring ZFTA::NCOA1/2 fusion in infants presenting with mixed histology of embryonal-appearing components resembling ependymoma and mesenchymal sarcomatous components have recently been reported as ependymoma-like tumors with mesenchymal differentiation (ELTMDs). In contrast, we describe herein a pathologically similar case with a novel ZFTA::RELA fusion in an adult. A frontal lobe lesion was resected from a 30-year-old woman and displayed mixed components on pathological examination, showing ependymoma-like and sarcomatous parts. The absence of perivascular pseudorosettes was inconsistent with a diagnosis of ependymoma. Fluorescence in situ hybridization analysis confirmed ZFTA::RELA fusion. The DKFZ methylation classifier (v12.8) did not categorize this case among established methylation classes. In addition, t-distributed stochastic neighbor embedding analysis using DNA methylation data revealed that the present case was distant from ependymomas but close to two previously reported cases of ELTMD involving ZFTA::NCOA1/2 fusion. Taken together, we concluded that this tumor should be considered under the entity of ELTMD. This represents the first description of an adult patient with ELTMD harboring ZFTA::RELA fusion analyzed by DNA methylation profiling, supporting the establishment of ELTMD as a possible new tumor type.

BACKGROUND: Spinal tumors (ST) often result in dire prognosis, carrying risks such as permanent paralysis, sensory loss, and sphincter dysfunction. Data on their incidence and etiology in pediatric populations are markedly scant. Our study investigates the etiology, clinical manifestation, treatment, and outcomes of pediatric ST.
METHODS: We conducted a retrospective review of our institutional pediatric oncology and neurosurgery database, examining 14 patients under 18 years admitted with ST due to oncological diseases since 2005. We analyzed the clinical presentations, evaluations, molecular diagnostics and treatments for these patients.
RESULTS: The study spanned 15 years and included 14 pediatric patients, each diagnosed with distinct spinal tumor entity. The mean patient age was approximately 19.6 ± 10.1 months. Severe axial pain along the vertebral column was observed in 13 patients, while acute neurological deterioration manifested in 7 patients. As a first-line intervention, 13 patients underwent decompressive surgery through laminectomy and tumor resection, and only one patient received chemotherapy solely. Before surgery, seven patients were unable to walk; post-surgery, six of them regained their ability to ambulate. The diagnosis encompassed a range of neoplasms: two instances of Ewing sarcoma, 3 instances of teratoma, one case presenting an atypical teratoid Rhabdoid tumor, two instances each of low-grade astrocytoma and neuroblastoma, and single instances of ependymoma, meningioma, rhabdomyosarcoma, and embryonal tumors with multilayered rosettes (ETMRs). Three patients succumbed two years after initiating therapy.
CONCLUSIONS: Despite their rarity, intraspinal tumors in pediatric patients pose substantial therapeutic challenges. The intertwined complexities of the disease entity and the patient\'s neurological status demand swift initiation of an individualized therapeutic strategy. This crucial step helps optimize outcomes for this patient cohort, who frequently grapple with debilitating health conditions. Inclusion of these patients within a registry is mandatory to optimize treatment outcomes due to their rarity in pediatric population.

UNASSIGNED: Lhermitte\'s sign is a nonspecific historical and exam finding that carries with it a differential diagnosis of cervical myelopathy, multiple sclerosis, intradural tumors, or other central nervous system pathology. Regardless of the suspected diagnosis, further diagnostic investigation is indicated to determine etiology of symptoms.
UNASSIGNED: In this case, a 67-year-old male Veteran presents to a Veterans Affairs (VA) outpatient chiropractic clinic with an insidious 6-month onset of neck pain with historical description of a positive Lhermitte\'s sign, a single episode of bladder incontinence, and mild changes in upper extremity manual dexterity. These subtle historical findings prompted referral for a brain and cervical spine MRI, revealing an ependymoma in the cervical spine. Urgent neurosurgical referral was made, and the patient underwent C3-C7 laminectomy, C3-T2 fusion, and tumor resection.
UNASSIGNED: This case represents an example of clinical reasoning in a VA chiropractic clinic when presented with subtle neurologic findings, and discusses the differential diagnoses and decision-making process to pursue imaging that resulted in appropriate neurosurgical management.
Épendymome lombaire se manifestant par des signes neurologiques subtils dans une clinique chiropratique des anciens combattants: un rapport de cas sur le diagnostic différentiel et l’utilisation appropriée de l’imagerie diagnostique.
UNASSIGNED: Le signe de Lhermitte est un résultat non spécifique de l’histoire et de l’examen qui entraîne un diagnostic différentiel de myélopathie cervicale, de sclérose en plaques, de tumeurs intradurales ou d’une autre pathologie du système nerveux central. Quel que soit le diagnostic présumé, des examens complémentaires sont indiqués pour déterminer l’étiologie des symptômes.
UNASSIGNED: Dans ce cas, un vétéran de 67 ans se présente à une clinique chiropratique ambulatoire des anciens combattants (VA) avec une douleur cervicale insidieuse apparue six mois auparavant et une description historique d’un signe de Lhermitte positif, d’un épisode unique d’incontinence vésicale et de légers changements dans la dextérité manuelle des membres supérieurs. Ces antécédents subtils ont incité le patient à demander une IRM du cerveau et du rachis cervical, qui a révélé un épendymome dans le rachis cervical. Un transfert neurochirurgical urgent a été effectué et le patient a subi une laminectomie C3-C7, une fusion C3-T2 et une résection de la tumeur.
Ce cas représente un exemple de prise de décision clinique dans une clinique chiropratique des anciens combattants lorsqu’on présente des résultats neurologiques subtils, et discute des diagnostics différentiels et du processus de prise de décision pour poursuivre l’imagerie qui a abouti à une prise en charge neurochirurgicale appropriée.

UNASSIGNED: Ependymomas are rare glial tumors that commonly arise from the lining cells of ventricular system and constitute ~10% of intracranial pediatric malignancies. The incidence of ependymoma in adults is rare. Due to close approximation with the ventricular system, subtentorial ependymomas are more prone to show cerebrospinal fluid metastasis compared with supratentorial ependymomas. We present a case of subtentorial cerebellopontine angle ependymoma with diffuse spinal drop metastases showing \"elongated pony tail appearance\" in a 69-year-old man with complete metabolic response on 18 F-FDG PET/CT imaging following chemoradiotherapy.

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BACKGROUND: Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20-40 years of age. The current World Health Organization classification system for ependymomas is now composed of ten different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes.
METHODS: We present the case of a 16-year-old Caucasian female patient with a history of type 2 neurofibromatosis with multiple schwannomas, meningioma, and spinal ependymoma. Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,-6,+7,-22,+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis of the formalin-fixed paraffin-embedded tumor sample confirmed + 7, -22 and clarified that the marker chromosome represents chromothripsis of the entire chromosome 6 with more than 100 breakpoints. Fluorescent in situ hybridization and microarray analysis showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (central nervous system World Health Organization grade 2 with no MYCN amplification.
CONCLUSIONS: This case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis.

BACKGROUND Myxopapillary ependymoma is a rare type of slow-growing tumor that mainly occurs in the spinal cord, particularly in the region of the conus medullaris and the cauda equina. It originates from the ependymal glial cells found in the filum terminale. CASE REPORT We present a clinical case of a 44-year-old male patient who presented with symptoms of non-specific pain in the lower back persisting for the past 2 years. He did not report any specific neurological deficits or radicular symptoms. Unenhanced MRI of the lumbar spine showed a giant intradural, extramedullary, heterogenous, expansive tumor at the level L1-S4 with erosion of the sacral bone and invasion of presacral tissue. Based on its characteristic localization and growth pattern, suspicion arose for myxopapillary ependymoma. Biopsy confirmed the initial diagnosis. Partial resection of the tumor with laminectomy and laminoplasty was deemed necessary. Preoperative neural axis MRI showed contrast-enhancing lesions in the cerebellum and the cervical and thoracic spine; therefore, adjuvant radiation therapy was administered. Following the surgery, the patient experienced intermittent episodes of neurological deficits and required physiotherapy. Control MRI a year after the operation showed tumor growth and more metastases along the neural axis. CONCLUSIONS Complete surgical excision of the tumor is the preferred treatment approach, but there is a risk of recurrence even after total excision, so radiotherapy is recommended to minimize the risk of recurrence. Prior to surgery, it is essential to conduct MRI/PET/CT of the head and spine to assess the possibility of metastases.

Recently, there has been growing interest in the presence and function of meningeal lymphatic vessels, with no direct evidence linking these vessels to primary brain tumors. We report a unique case of recurrent ependymoma in the dura mater, showing histopathological signs of lymphatic proliferation at the tumor attachment site. The patient initially presented with a headache, and was diagnosed with ZFTA fusion-positive supratentorial ependymoma, central nervous system WHO Grade 3. Following multiple dura mater recurrences and surgery, the fifth procedure revealed numerous tumors contralateral to the original site, with genetic testing confirming ZFTA fusion positivity, indicating recurrent ependymoma. Immunohistochemical analysis showed D2-40+ lymphatic vessel proliferation around tumor attachment sites within the dura mater. Elevated expression of ZEB1, which is an epithelial-to-mesenchymal transition factor, was also observed, implicating potential involvement in the unique pathophysiology. The present case suggests a new process of metastasis through meningeal lymphatic vessels, although we were unable to visually confirm tumor cell infiltration into the lymphatic vessels. This case is the first report suggesting ependymoma metastasis through dural lymphatic vessels, underlining the need for further case accumulation and study to understand the mechanisms of this phenomenon.

Metastatic ependymoma of the gallbladder is an exceptionally rare condition that remains relatively unreported in the scientific literature. The present study described a case involving a 42-year-old female patient who underwent right frontal lobe surgery for ependymoma in 2017 and subsequently received adjuvant chemotherapy. The histological examination of the surgical specimen confirmed the presence of ependymoma metastasis in the gallbladder. The presentation and outcome of this patient with regard to metastatic ependymoma in the gallbladder were evaluated. During a follow-up period of 10 months, the patient received targeted treatment following the surgery. Presently, the patient has developed lung and bone metastases. In the present report, the treatment and diagnostic approach utilized in this unique case were outlined with the aim of providing valuable insight for future clinical management and enhancing clinicians\' understanding of the disease.